Canonical Allele Identifier: CA65562550
Gene: XRCC5 HGNC NCBI

Linked Data

dbSNP Id: rs919404048
gnomAD v3: 2-216205691-A-G
gnomAD v4: 2-216205691-A-G
MyVariant Identifiers: chr2:g.217070414A>G (hg19) chr2:g.216205691A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216205691A>G , CM000664.2:g.216205691A>G GRCh38
NC_000002.11:g.217070414A>G , CM000664.1:g.217070414A>G GRCh37
NC_000002.10:g.216778659A>G NCBI36
NG_029780.1:g.101395A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392132.7:c.*489A>G MANE Select ENSP00000375977.2:n.*489A>G
ENST00000392132.6:c.*489A>G ENSP00000375977.2:n.*489A>G
ENST00000392133.7:c.*489A>G ENSP00000375978.3:n.*489A>G
NM_021141.3:c.*489A>G NP_066964.1:n.*489A>G
NM_021141.4:c.*489A>G MANE Select NP_066964.1:n.*489A>G
Search 100 bp 5'
Search 100 bp 3'